Browsing by Author "Slaugenhaupt, Susan"

Now showing items 1-7 of 7

    • Autophagy in Lysosomal Storage Disorders 

      Lieberman, Andrew P.; Puertollano, Rosa; Raben, Nina; Slaugenhaupt, Susan Ann; Walkley, Steven U.; Ballabio, Andrea (Landes Bioscience, 2012)
      Lysosomes are ubiquitous intracellular organelles that have an acidic internal pH, and play crucial roles in cellular clearance. Numerous functions depend on normal lysosomes, including the turnover of cellular constituents, ...

    • Behavioral deficits, early gliosis, dysmyelination and synaptic dysfunction in a mouse model of mucolipidosis IV 

      Grishchuk, Yulia; Sri, Sarmi; Rudinskiy, Nikita; Ma, Weiyuan; Stember, Katherine G; Cottle, Matthew W; Sapp, Ellen; Difiglia, Marian; Muzikansky, Alona; Betensky, Rebecca A; Wong, Andrew M S; Bacskai, Brian J; Hyman, Bradley T; Kelleher, Raymond J; Cooper, Jonathan D; Slaugenhaupt, Susan A (BioMed Central, 2014)
      Mucolipidosis IV (MLIV) is caused by mutations in the gene MCOLN1. Patients with MLIV have severe neurologic deficits and very little is known about the brain pathology in this lysosomal disease. Using an accurate mouse ...

    • Cloning and Characterization of the Mouse Mcoln1 Gene Reveals an Alternatively Spliced Transcript Not Seen in Humans 

      Falardeau, John L; Kennedy, John C; Acierno, James S; Sun, Mei; Stahl, Stefanie; Goldin, Ehud; Slaugenhaupt, Susan Ann (BioMed Central, 2002)
      Background: Mucolipidosis type IV (MLIV) is an autosomal recessive lysosomal storage disorder characterized by severe neurologic and ophthalmologic abnormalities. Recently the MLIV gene, MCOLN1, has been identified as a ...

    • Genetic association analyses highlight biological pathways underlying mitral valve prolapse 

      Dina, Christian; Bouatia-Naji, Nabila; Tucker, Nathan; Delling, Francesca N.; Toomer, Katelynn; Durst, Ronen; Perrocheau, Maelle; Fernandez-Friera, Leticia; Solis, Jorge; Le Tourneau, Thierry; Chen, Ming-Huei; Probst, Vincent; Bosse, Yohan; Pibarot, Philippe; Zelenika, Diana; Lathrop, Mark; Hercberg, Serge; Roussel, Ronan; Benjamin, Emelia J.; Bonnet, Fabrice; Su Hao, LO; Dolmatova, Elena; Simonet, Floriane; Lecointe, Simon; Kyndt, Florence; Redon, Richard; Le Marec, Hervé; Froguel, Philippe; Ellinor, Patrick T.; Vasan, Ramachandran S.; Bruneval, Patrick; Norris, Russell A.; Milan, David J.; Slaugenhaupt, Susan A.; Levine, Robert A.; Schott, Jean-Jacques; Hagege, Albert A.; Jeunemaitre, Xavier (2016)
      Non-syndromic mitral valve prolapse (MVP) is a common degenerative cardiac valvulopathy of unknown aetiology that predisposes to mitral regurgitation, heart failure and sudden death1. Previous family and pathophysiological ...

    • Implementation of Electronic Consent at a Biobank: An Opportunity for Precision Medicine Research 

      Boutin, Natalie T.; Mathieu, Kathleen; Hoffnagle, Alison G.; Allen, Nicole L.; Castro, Victor M.; Morash, Megan; O’Rourke, P. Pearl; Hohmann, Elizabeth L.; Herring, Neil; Bry, Lynn; Slaugenhaupt, Susan A.; Karlson, Elizabeth W.; Weiss, Scott T.; Smoller, Jordan W. (MDPI, 2016)
      The purpose of this study is to characterize the potential benefits and challenges of electronic informed consent (eIC) as a strategy for rapidly expanding the reach of large biobanks while reducing costs and potentially ...

    • Mutations in DCHS1 Cause Mitral Valve Prolapse 

      Durst, Ronen; Sauls, Kimberly; Peal, David S; deVlaming, Annemarieke; Toomer, Katelynn; Leyne, Maire; Salani, Monica; Talkowski, Michael E.; Brand, Harrison; Perrocheau, Maëlle; Simpson, Charles; Jett, Christopher; Stone, Matthew R.; Charles, Florie; Chiang, Colby; Lynch, Stacey N.; Bouatia-Naji, Nabila; Delling, Francesca N.; Freed, Lisa A.; Tribouilloy, Christophe; Le Tourneau, Thierry; LeMarec, Hervé; Fernandez-Friera, Leticia; Solis, Jorge; Trujillano, Daniel; Ossowski, Stephan; Estivill, Xavier; Dina, Christian; Bruneval, Patrick; Chester, Adrian; Schott, Jean-Jacques; Irvine, Kenneth D.; Mao, Yaopan; Wessels, Andy; Motiwala, Tahirali; Puceat, Michel; Tsukasaki, Yoshikazu; Menick, Donald R.; Kasiganesan, Harinath; Nie, Xingju; Broome, Ann-Marie; Williams, Katherine; Johnson, Amanda; Markwald, Roger R.; Jeunemaitre, Xavier; Hagege, Albert; Levine, Robert A.; Milan, David J.; Norris, Russell A.; Slaugenhaupt, Susan A. (2015)
      SUMMARY Mitral valve prolapse (MVP) is a common cardiac valve disease that affects nearly 1 in 40 individuals1–3. It can manifest as mitral regurgitation and is the leading indication for mitral valve surgery4,5. Despite ...

    • Sensory and autonomic deficits in a new humanized mouse model of familial dysautonomia 

      Morini, Elisabetta; Dietrich, Paula; Salani, Monica; Downs, Heather; Wojtkiewicz, Gregory; Alli, Shanta; Brenner, Anthony; Nilbratt, Mats; LeClair, John; Oaklander, Anne Louise; Slaugenhaupt, Susan Ann; Dragatsis, Ioannis (Oxford University Press (OUP), 2016)
      Familial dysautonomia (FD) is an autosomal recessive neurodegenerative disease that affects the development and survival of sensory and autonomic neurons. FD is caused by an mRNA splicing mutation in intron 20 of the IKBKAP ...